Abstract:
:Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur togetherin 9 out of 10 affected individuals. The last patient had Marinesco-Sjøgren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from a third kindred. On the hypothesis that the concurrence of Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism was caused by linkage, a lod score analysis was conducted. Four sibships in the two kindreds were informative with respect to linkage. At the recombination fraction 0.05, the lod score exceeded 3. If linkage causes the concurrence of Marinesco-Sjøgren syndrome and hypergonadotropic hypongonadism in these kindreds, the linkage is close. No linkage was observed between the clinical syndromes and 17 marker systems.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Skre H,Berg Kdoi
10.1111/j.1399-0004.1977.tb01279.xsubject
Has Abstractpub_date
1977-01-01 00:00:00pages
57-66issue
1eissn
0009-9163issn
1399-0004journal_volume
11pub_type
杂志文章abstract::Clinical descriptions of individuals with partial deletion of the distal short arm of chromosome three have been reported rarely. A characteristic phenotype has been proposed. We present another patient with this cytogenetic abnormality whose physical and developmental features show similarities with, as well as diffe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb02283.x
更新日期:1985-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2009-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb01508.x
更新日期:1975-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02709.x
更新日期:1996-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb01580.x
更新日期:1976-03-01 00:00:00
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb03917.x
更新日期:1995-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03640.x
更新日期:1992-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03406.x
更新日期:1992-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12325
更新日期:2015-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2011.01713.x
更新日期:2011-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01336.x
更新日期:1977-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01341.x
更新日期:1977-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12347
更新日期:2015-02-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1111/j.0009-9163.2004.00280.x
更新日期:2004-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb01057.x
更新日期:1981-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12194
更新日期:2014-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01005.x
更新日期:1979-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.610304.x
更新日期:2002-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2010.01436.x
更新日期:2010-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13887
更新日期:2020-11-20 00:00:00
abstract::Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a sys...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13620
更新日期:2019-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00783.x
更新日期:2007-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01514.x
更新日期:2011-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:
更新日期:1984-05-01 00:00:00
abstract::Muscular dystrophy (MD) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb-girdle MD (LGMD)-related genes in 35 patients who were highly suspected of having MD. We identified one or more pathogenic variants in 23 of 35 patients (65.7%), and a genetic dia...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12621
更新日期:2016-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 评论,杂志文章
doi:10.1111/cge.12262
更新日期:2014-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12846
更新日期:2017-01-01 00:00:00
abstract::A genealogical survey of familial amyloid polyneuropathy in the Arao district of Japan was undertaken, and the data were analysed statistically. The survey revealed 92 patients (46 males and 46 females) in 9 families. Thirty-one of the patients (16 males and 15 females) are alive. For 44 patients, the mean age of onse...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1983-11-01 00:00:00